TAILIEUCHUNG - Báo cáo khoa học: Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties

Periplasmic binding proteins are abundant in bacteria by virtue of their essential roles as high-affinity receptors in ABC transport systems and chemotaxis. One of the best studied of these receptors is the so-called glucose⁄galactose-binding protein. Here, we report the X-ray structure of the Salmonella typhimuriumprotein bound to the physiologically relevant ligand, (2R)-glyceryl-b-d-galactopyranoside, solved by molecular replace-ment, and refined to A˚ resolution with RandR-free values of 17% and 22% | Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties Dana Ulbrichova1 Matous Hrdinka1 Vladimir Saudek2 and Pavel Martasek1 1 Department of Pediatrics and Center for Applied Genomics First Schoolof Medicine Charles University Prague Czech Republic 2 Laboratory of Molecular Pathology Institute of Inherited Metabolic Disorders First Schoolof Medicine Charles University Prague Czech Republic Keywords acute intermittent porphyria heme hydroxymethylbilane synthase porphobilinogen deaminase porphyria Correspondence P. Martasek Department of Pediatrics and Center for Applied Genomics First School of Medicine Charles University Ke Karlovu 2 Building D 2nd Floor 128 08 Prague 2 Czech Republic Fax 420 224 96 70 99 Tel 420 224 96 77 55 E-mail Present address Laboratory of Molecular Immunology Institute of Molecular Genetics AS CR Prague Czech Republic Received 25 November 2008 revised 28 January 2009 accepted 2 February 2009 doi Acute intermittent porphyria is an autosomal dominantly inherited disorder classified as acute hepatic porphyria caused by a deficiency of hydroxymethylbilane synthase EC EC also known as porphobilinogen deaminase uroporphyrinogen I synthase the third enzyme in heme biosynthesis. Clinical features include autonomous central motor or sensory symptoms but the most common clinical presentation is abdominal pain caused by neurovisceral crises. A diagnosis of acute intermittent porphyria is crucial to prevent life-threatening acute attacks. Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive. In the present study we identified gene defects in six Czech patients with acute intermittent .

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